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1. Full Text A population-based approach for gene prioritization in understanding complex traits
by Mezzavilla, Massimo and Cocca, Massimiliano and Guidolin, Francesca and Gasparini, Paolo
Human genetics, ISSN 0340-6717, 03/2020, Volume 139, Issue 5, pp. 647 - 655
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Variation | Haplotypes | Models, Theoretical | Genetics, Population | Multifactorial Inheritance - genetics | Genome-Wide Association Study | Phenotype | Ethnic Groups - genetics | Signal Transduction | Humans | Genetic Markers | Genetic research | Genes | Genetic aspects | Subpopulations | Phenotypes | Genetic analysis | Phenotypic variations | Index Medicus
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2. Full Text A reference panel of 64,976 haplotypes for genotype imputation
by McCarthy, Shane and Das, Sayantan and Kretzschmar, Warren and Delaneau, Olivier and Wood, Anew R and Teumer, Alexander and Kang, Hyun Min and Fuchsberger, Christian and Danecek, Petr and Sharp, Kevin and Luo, Yang and Sidorel, Carlo and Kwong, Alan and Timpson, Nicholas and Koskinen, Seppo and Vrieze, Scott and Scott, Laura J and Zhang, He and Mahajan, Anubha and Veldink, Jan and Peters, Ulrike and Pato, Carlos and van Duijn, Cornelia M and Gillies, Christopher E and Gandin, Ilaria and Mezzavilla, Massimo and Gilly, Arthur and Cocca, Massimiliano and Traglia, Michela and Angius, Anea and Barrett, Jeffrey C and Boomsma, Dorrett and Branham, Kari and Breen, Gerome and Brummett, Chad M and Busonero, Fabio and Campbell, Harry and Chan, Anew and Che, Sai and Chew, Emily and Collins, Francis S and Corbin, Laura J and Smith, George Davey and Dedoussis, George and Dorr, Marcus and Farmaki, Aliki-Eleni and Ferrucci, Luigi and Forer, Lukas and Wijmenga, Cisca and Swertz, Morris A and Haplotype Reference Consortium and the Haplotype Reference Consortium
Nature genetics, ISSN 1061-4036, 10/2016, Volume 48, Issue 10, pp. 1279 - 1283
POPULATION | RARE VARIANTS | SEQUENCE | GENOME-WIDE ASSOCIATION | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Studies | Datasets | Haplotypes | Consortia | Accuracy | Genealogy | Researchers | Genomics | Collaboration | Genomes | Index Medicus | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
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3. Full Text MCM8 and MCM9 Nucleotide Variants in Women With Primary Ovarian Insufficiency
by Desai, Swapna and Wood-Trageser, Michelle and Matic, Jelena and Chipkin, Jaqueline and Jiang, Huaiyang and Bachelot, Anne and Dulon, Jerome and Sala, Cinzia and Barbieri, Caterina and Cocca, Massimiliano and Toniolo, Daniela and Touraine, Philippe and Witchel, Selma and Rajkovic, Aleksandar
The journal of clinical endocrinology and metabolism, ISSN 0021-972X, 02/2017, Volume 102, Issue 2, pp. 576 - 582
Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Aging - genetics | Humans | Primary Ovarian Insufficiency - genetics | DNA Damage - genetics | Adult | Female | Minichromosome Maintenance Proteins - genetics | DNA Repair - genetics | Sequence Analysis, DNA | Proteins | Follicle-stimulating hormone | Damage detection | Nonsense mutation | Genes | DNA damage | Aging | Stop codon | DNA repair | Deoxyribonucleic acid--DNA | Index Medicus | Abridged Index Medicus
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4. Full Text Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability
by Hysi, Pirro G and Valdes, Ana M and Liu, Fan and Furlotte, Nicholas A and Evans, David M and Bataille, Veronique and Visconti, Alessia and Hemani, Gibran and McMahon, George and Ring, Susan M and Smith, George Davey and Duffy, David L and Zhu, Gu and Gordon, Scott D and Medland, Sarah E and Lin, Bochao D and Willemsen, Gonneke and Hottenga, Jouke Jan and Vuckovic, gana and Girotto, Giorgia and Gandin, Ilaria and Sala, Cinzia and Concas, Maria Pina and Brumat, Marco and Gasparini, Paolo and Toniolo, Daniela and Cocca, Massimiliano and Robino, Antonietta and Yazar, Seyhan and Hewitt, Alex W and Chen, Yan and Zeng, Changqing and Uitterlinden, Ane G and Ikram, M. Arfan and Hamer, Merel A and Van Duijn, Cornelia M and Nijsten, Tamar and MacKey, David A and Falchi, Mario and Boomsma, Dorret I and Martin, Nicholas G and Hinds, David A and Kayser, Manfred and Spector, Timothy D and Int Visible Trait Genetics Consor and International Visible Trait Genetics Consortium and The International Visible Trait Genetics Consortium
Nature genetics, ISSN 1061-4036, 05/2018, Volume 50, Issue 5, pp. 652 - 656
Genetics | Journal Article | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Hair | Haplotypes | Phenotypes | Populations | Genetic control | Genes | Color | Population studies | Genomes | Single-nucleotide polymorphism | Metabolism | Loci | Meta-analysis | Consortia | X Chromosomes | Heritability | Bioinformatics | Polygenic inheritance | Chromosomes | Melanin | Index Medicus
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5. Full Text Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection
by Vuckovic, Dragana and Mezzavilla, Massimo and Cocca, Massimiliano and Morgan, Anna and Brumat, Marco and Catamo, Eulalia and Concas, Maria Pina and Biino, Ginevra and Franzè, Annamaria and Ambrosetti, Umberto and Pirastu, Mario and Gasparini, Paolo and Girotto, Giorgia
European journal of human genetics : EJHG, ISSN 1018-4813, 08/2018, Volume 26, Issue 8, pp. 1167 - 1179
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Genome-Wide Association Study | Humans | Middle Aged | Selection, Genetic | Female | Male | Presbycusis - genetics | Aged | Genetic Pleiotropy | Multifactorial Inheritance | Polymorphism, Genetic | Whole Genome Sequencing | Genes | Cognitive ability | Genomes | Mental depression | Hearing impairment | Risk factors | Natural selection | Hearing loss | Pleiotropy | Cochlea | Anxiety | Autonomy | Age | Geriatrics | Index Medicus
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6. Full Text A bird's-eye view of Italian genomic variation through whole-genome sequencing
by Cocca, Massimiliano and Barbieri, Caterina and Concas, Maria Pina and Robino, Antonietta and Brumat, Marco and Gandin, Ilaria and Trudu, Matteo and Sala, Cinzia Felicita and Vuckovic, Dragana and Girotto, Giorgia and Matullo, Giuseppe and Polasek, Ozren and Kolcic, Ivana and Gasparini, Paolo and Soranzo, Nicole and Toniolo, Daniela and Mezzavilla, Massimo
European journal of human genetics : EJHG, ISSN 1018-4813, 04/2020, Volume 28, Issue 4, pp. 435 - 444
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Population structure | Genomes | Genetic diversity | Variation | Natural selection | Index Medicus | Next-generation sequencing | Rare variants
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7. Full Text Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations
by Traglia, Michela and Girelli, Domenico and Biino, Ginevra and Campostrini, Natascia and Corbella, Michela and Sala, Cinzia and Masciullo, Corrado and Viganò, Fiammetta and Buetti, Iwan and Pistis, Giorgio and Cocca, Massimiliano and Camaschella, Clara and Toniolo, Daniela
Journal of medical genetics, ISSN 0022-2593, 09/2011, Volume 48, Issue 9, pp. 629 - 634
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Hematologic and hematopoietic diseases | Anemias. Hemoglobinopathies | Biological and medical sciences | Medical sciences | Diseases of red blood cells | Hemochromatosis Protein | Membrane Proteins - genetics | Humans | Middle Aged | Male | Histocompatibility Antigens Class I - genetics | Genetic Variation | Young Adult | Ferritins - blood | Hepcidins | Adolescent | Erythrocytes - metabolism | Serine Endopeptidases - genetics | Aged, 80 and over | Adult | Female | Aged | Antimicrobial Cationic Peptides - blood | Iron - blood | Measurement | Medical examination | Demographic aspects | Analysis | Erythrocytes | Physiological aspects | Iron in the body | Research | Peptide hormones | Index Medicus
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8. Full Text 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function
by Gorski, Mathias and Van der Most, Peter J and Teumer, Alexander and Chu, Auey Y and Li, Man and Mijatovic, Vladan and Nolte, Ilja M and Cocca, Massimiliano and Taliun, Daniel and Gomez, Felicia and Li, Yong and Tayo, Bamidele and Tin, Aienne and Feitosa, Mary F and Aspelund, Thor and Attia, John and Biffar, Reiner and Bochud, Murielle and Boerwinkle, Eric and Borecki, Ingrid and Bottinger, Erwin P and Chen, Ming-Huei and Chouraki, Vincent and Ciullo, Marina and Coresh, Josef and Cornelis, Marilyn C and Curhan, Gary C and d'Adamo, Adamo Pio and Dehghan, Abbas and Dengler, Laura and Ding, Jingzhong and Eiriksdottir, Gudny and Endlich, Karlhans and Enroth, Stefan and Esko, Tonu and Franco, Oscar H and Gasparini, Paolo and Gieger, Christian and Girotto, Giorgia and Gottesman, Omri and Gudnason, Vilmundur and Gyllensten, Ulf and Hancock, Stephen J and Harris, Tamara B and Helmer, Catherine and Hoellerer, Simon and Hofer, Edith and Hofman, Albert and Holliday, Elizabeth G and Homuth, Georg and Hu, Frank B and Huth, Cornelia and Hutri-Kahonen, Nina and Hwang, Shih-Jen and Imboden, Medea and Johansson, Asa and Kahonen, Mika and Koenig, Wolfgang and Kraemer, Holly and Kramer, Bernhard K and Kumar, Ashish and Kutalik, Zoltan and Lambert, Jean-Charles and Launer, Lenore J and Lehtimaki, Terho and de Borst, Martin and Navis, Gerjan and Swertz, Morris and Liu, Yongmei and Lohman, Kurt and Loos, Ruth J. F and Lu, Yingchang and Lyytikainen, Leo-Pekka and McEvoy, Mark A and Meisinger, Christa and Meitinger, Thomas and Metspalu, Anes and Metzger, Marie and Mihailov, Evelin and Mitchell, Paul and Nauck, Matthias and Oldehinkel, Albertine J and Olden, Matthias and Penninx, Brenda W. J. H and Pistis, Giorgio and Pramstaller, Peter P and Probst-Hensch, Nicole and Raitakari, Olli T and Rettig, Rainer and Ridker, Paul M and Rivadeneira, Fernando and Robino, Antonietta and Rosas, Sylvia E and Ruderfer, Douglas and Ruggiero, Daniela and Saba, Yasaman and Sala, Cinzia and Schmidt, Helena and Schmidt, Reinhold and Scott, Rodney J and ...
Scientific reports, ISSN 2045-2322, 04/2017, Volume 7, Issue 1, pp. 45040 - 45040
SERUM CREATININE | GLOMERULAR-FILTRATION-RATE | COMMUNITY-BASED POPULATION | VARIANTS | INTEGRATION | GENOTYPE IMPUTATION | DISEASE | LINKAGE ANALYSIS | WIDE ASSOCIATION | HERITABILITY | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Kidney - physiology | Computational Biology - methods | Genome-Wide Association Study | Gene Frequency | Humans | Polymorphism, Single Nucleotide | Genetic Loci | Genome, Human | Genotyping Techniques | Glucose metabolism | Epidermal growth factor receptors | Gene frequency | Genes | Septum | Carbohydrate metabolism | Genomes | Single-nucleotide polymorphism | Metabolism | Heart diseases | Glomerular filtration rate | Index Medicus
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9. Full Text The UK10K project identifies rare variants in health and disease
by Walter, Klaudia and Min, Josine L and Huang, Jie and Crooks, Lucy and Memari, Yasin and McCarthy, Shane and Perry, John and Xu, Changjiang and Futema, Marta and Lawson, Daniel and Iotchkova, Valentina and Schiffels, Stephan and Henicks, Auey E and Danecek, Petr and Li, Rui and Floyd, James and Wain, Louise and Barroso, Inês and Humphries, Steve and Hurles, Matthew and Zeggini, Eleftheria and Barrett, Jeffrey and Plagnol, Vincent and Richards, Brent and Greenwood, Celia and Timpson, Nicholas and Durbin, Richard and Bala, Senduran and Clapham, Peter and Coates, Guy and Cox, Tony and Daly, Allan and Du, Yuanping and Edkins, Ted and Ellis, Peter and Flicek, Paul and Guo, Xiaosen and Guo, Xueqin and Huang, Liren and Jackson, David K and Joyce, Chris and Keane, Thomas and Kolb-Kokocinski, Anja and Langford, Cordelia and Li, Yingrui and Liang, Jieqin and Lin, Hong and Liu, Ryan and Maslen, John and Muddyman, Dawn and Quail, Michael A and Stalker, Jim and Sun, Jianping and Tian, Jing and Wang, Guangbiao and Wang, Jun and Wang, Yu and Wong, Kim and Zhang, Pingbo and Birney, Ewan and Boustred, Chris and Chen, Lu and Clement, Gail and Cocca, Massimiliano and Smith, Davey and Day, Ian N.M and Day-Williams, Aaron and Down, Thomas and Dunham, David and Evans, David M and Gaunt, Tom and Geihs, Matthias and Hart, Deborah and Howie, Bryan and Hubbard, Tim and Hysi, Pirro and Jamshidi, Yalda and Karczewski, Konrad and Kemp, John and Lachance, Genevieve and Lek, Monkol and Lopes, Margarida and MacArthur, Daniel G and Marchini, Jonathan and Mangino, Massimo and Mathieson, Iain and Metrustry, Sarah and Moayyeri, Alireza and Northstone, Kate and Panoutsopoulou, Kalliope and Paternoster, Lavinia and Quaye, Lydia and Ring, Susan and Ritchie, Graham R.S and Shihab, Hashem A and Shin, So-Youn and Small, Kerrin and Artigas, M.S and Soranzo, Nicole and Southam, Lorraine and ... and UCLEB Consortium and UK10K Consortium and The UK10K Consortium
Nature (London), ISSN 0028-0836, 10/2015, Volume 526, Issue 7571, pp. 82 - 89
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Genetics, Population | Receptors, LDL - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Disease - genetics | Health | Genomics | Humans | Molecular Sequence Annotation | Male | United Kingdom | Sequence Analysis, DNA | Genome, Human - genetics | Adiponectin - blood | Exome - genetics | Reference Standards | Genetics, Medical | Alleles | Triglycerides - blood | Female | Lipid Metabolism - genetics | Genetic Variation - genetics | Cohort Studies | Genetic research | Research | Genetic variation | Identification and classification | Health aspects | Population genetics | Proteins | Studies | Haplotypes | Obesity | Genealogy | Disease | Quality | Population | Genomes | Mutation | Index Medicus
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